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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: guittard c. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Claustres M, et al. Among authors: guittard c. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF. Modiano G, et al. Among authors: guittard c. Eur J Hum Genet. 2005 Feb;13(2):184-92. doi: 10.1038/sj.ejhg.5201306. Eur J Hum Genet. 2005. PMID: 15536480
The molecular basis of cystic fibrosis in South Africa.
Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M. Goldman A, et al. Among authors: guittard c. Clin Genet. 2001 Jan;59(1):37-41. doi: 10.1034/j.1399-0004.2001.590106.x. Clin Genet. 2001. PMID: 11168023
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Taulan M, et al. Among authors: guittard c. BMC Med Genet. 2007 Apr 20;8:22. doi: 10.1186/1471-2350-8-22. BMC Med Genet. 2007. PMID: 17448246 Free PMC article.
41 results